Conditions / Syndrome
cold-induced sweating syndrome 3
info · Syndrome
A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15.
Signs and symptoms
- Dysphagia
- Feeding difficulties
- Depressed nasal bridge
- Camptodactyly
- Fever
- High palate
- Full cheeks
- Joint contracture
- Rod-cone dystrophy
- Respiratory distress